Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review

Abstract

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant genetic disorder characterized by mental retardation, broad thumbs, and hooked nose and so on. RSTS can cause multiple organ hypoplasia and multiple system hypoplasia (such as endocrine system, digestive system, urinary system, etc.) , and even involve the skin (such as pilomatrixomas, hirsutism, etc.) . Moreover, it has been recently reported to be associated with increased risk of cancer. However, relevant research about RSTS is still very limited. By use of clinical characteristics and genetic testing, only some cases can be diagnosed, and the diagnosis for many other cases additionally requires an in-depth analysis of etiology and pathogenesis of RSTS. This paper reports a suspected RSTS patient treated in the Affiliated Hospital of Guilin Medical University. Whole exome sequencing showed that the patient has a mutation in the CREBBP gene: c.3832G>A (p.Glu1278Lys) , but her parents do not have, indicating that it is a new mutation. By the analysis of the genetic testing result with clinical characteristics, the patient was diagnosed with RSTS. It is very difficult to make a diagnosis of RSTS. By providing a detailed description of clinical features of RSTS, this report is conducive to the study of genotype-phenotype correlation of RSTS, and to clinical diagnosis and treatment of RSTS.

Keywords

• rubinstein-taybi syndrome|genetic techniques|dna mutational analysis|genetic association studies|whole exome sequencing|rare diseases|crebbp gene